Blood biomarkers may reflect disease activity, kidney function
Pinpointing molecules may aid early diagnosis, personalized treatment
Levels of certain molecules in the blood may help track disease activity and kidney damage in Fabry disease, a study found.
“These biomarkers may play a crucial role in improving clinical management by facilitating early diagnosis and personalized treatment strategies for” Fabry disease, researchers wrote in the study, “The relationship between multiple plasma biomarker levels and renal disease activity in Fabry disease,” published in BMC Nephrology.
Fabry disease is caused by mutations in the gene that provides instructions to make the alpha-galactosidase A (alpha-Gal A) enzyme. This enzyme is normally needed to break down fatty molecules such as globotriaosylsphingosine (lyso-Gb3). In Fabry disease, these fatty molecules build up to toxic levels in cells, causing damage to organs and resulting in Fabry disease symptoms. Kidney damage is a common manifestation of Fabry disease.
A team led by scientists in Turkey set out to examine how levels of various molecules in blood are related to kidney involvement in people with Fabry disease. The team analyzed blood samples from 87 people with Fabry disease, 46 people with non-Fabry chronic kidney disease (CKD), and 41 people with no known health issues. Among the Fabry patients, about half had kidney involvement, and most were being treated with enzyme replacement therapy.
The scientists found that levels of a molecule called cystatin C was consistently higher in patients with kidney damage, including those with Fabry disease and those with CKD.
Certain molecules point to Fabry
“Our findings indicate that Cystatin C is the most consistent marker of renal dysfunction in Fabry patients,” the researchers wrote. “Even after adjusting for potential confounders, elevated cystatin C levels remained consistently associated with renal involvement.”
Another molecule, MCP-1, was significantly elevated in Fabry patients with kidney disease compared with Fabry patients without kidney dysfunction. But MCP-1 levels were not associated with levels of lyso-Gb3 in Fabry patients.
“MCP-1 levels were significantly higher in Fabry patients with renal involvement compared to those without, supporting its potential utility as a marker of renal dysfunction in” Fabry disease, the researchers wrote, adding that “MCP-1’s lack of association with Lyso-Gb3 levels implies it could serve as an independent marker for renal involvement, especially in cases of subclinical damage.”
Levels of two other molecules, KIM-1 and YKL-40, were not significantly different between people with Fabry disease and healthy controls. However, both of these molecules, especially YKL-40, showed statistically significant associations with lyso-Gb3 levels in the Fabry patients.
“These findings may suggest that KIM-1 and YKL-40 might be useful in monitoring disease activity,” the researchers wrote.
The researchers said their findings “support the notion that MCP-1, cystatin C, and YKL-40 may serve as organ-specific markers in” Fabry disease. “These biomarkers could complement existing tools such as [measures of kidney function] and Lyso-Gb3 in comprehensive disease monitoring,” they wrote.
The scientists emphasized a need for further research to validate their findings and explore the utility of these biomarkers in a clinical setting.
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